Canonical Allele Identifier: CA2620451322

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101770079-ACAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770086_101770088del , CM000674.2:g.101770086_101770088del	GRCh38
NC_000012.11:g.102163864_102163866del , CM000674.1:g.102163864_102163866del	GRCh37
NC_000012.10:g.100687995_100687997del	NCBI36
NG_021243.1:g.65786_65788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1223_1225del MANE Select	ENSP00000299314.7:p.Asp408del
ENST00000299314.11:c.1223_1225del	ENSP00000299314.7:p.Asp408del
ENST00000549940.5:c.1223_1225del	ENSP00000449150.1:p.Asp408del
NM_024312.4:c.1223_1225del	NP_077288.2:p.Asp408del
XM_006719593.2:c.1223_1225del	XP_006719656.1:p.Asp408del
XM_011538731.1:c.1142_1144del	XP_011537033.1:p.Asp381del
XM_006719593.3:c.1223_1225del	XP_006719656.1:p.Asp408del
XM_011538731.2:c.1142_1144del	XP_011537033.1:p.Asp381del
XM_017019961.1:c.1007_1009del	XP_016875450.1:p.Asp336del
XM_017019962.2:c.-5_-3del	XP_016875451.1:n.-5_-3del
NM_024312.5:c.1223_1225del MANE Select	NP_077288.2:p.Asp408del